ClinVar Miner

List of variants reported as likely pathogenic for Angelman syndrome

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Total variants: 18
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HGVS dbSNP
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NM_000462.5(UBE3A):c.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_130838.3(UBE3A):c.1304T>C (p.Leu435Pro) rs587781242
NM_130838.3(UBE3A):c.1430G>C (p.Arg477Pro) rs587781243
NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.3(UBE3A):c.1634G>A (p.Gly545Glu) rs587784516
NM_130838.3(UBE3A):c.1636G>A (p.Gly546Ser) rs1555393242
NM_130838.3(UBE3A):c.1688A>G (p.Asp563Gly) rs587784518
NM_130838.3(UBE3A):c.1697T>A (p.Met566Lys) rs587781244
NM_130838.3(UBE3A):c.1763A>G (p.Gln588Arg) rs587782919
NM_130838.3(UBE3A):c.2475_2478del (p.Leu825fs) rs863224940
NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) rs587781239
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.3(UBE3A):c.388_399del (p.Ile130_Val133del) rs587784531
NM_130838.3(UBE3A):c.710T>A (p.Leu237His) rs587780582
NM_130838.3(UBE3A):c.794T>C (p.Ile265Thr) rs1566959617
NM_130838.3(UBE3A):c.947T>C (p.Met316Thr) rs863225071

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